MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Musculoskeletal Diseases (D009140)
..Starting node ..Hand Deformities (D006226)
Child Nodes:
........Hand Deformities, Acquired (D006227)
........Hand Deformities, Congenital (D006228) 134
........Thumb deformity (C536903)
Sister Nodes:
..Bone Diseases (D001847) 1082
..C SYNDROME (OMIM:211750)
..Cartilage Diseases (D002357) 22
..Fasciitis (D005208) 4
..Foot Deformities (D005530) 92
..Foot Diseases (D005534) 13
..Hand Deformities (D006226) 137
..Jaw Diseases (D007571) 199
..Joint Diseases (D007592) 230
..Muscular Diseases (D009135) 430 C:34
..Musculoskeletal Abnormalities (D009139) 1165 C:3
..Rheumatic Diseases (D012216) 38
..Spondylocarpotarsal synostosis (C535780)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5347
Name:	Hand Deformities
Definition:	Alterations or deviations from normal shape or size which result in a disfigurement of the hand.
Alternative IDs:
ParentIDs:	MESH:D009140
TreeNumbers:	C05.390
Synonyms:	Deformities, Hand \|Deformity, Hand \|Hand Deformity
Slim Mappings:	Musculoskeletal disease
Reference:	MedGen: D006226 MeSH: D006226 OMIM: MSeqDR : Genes: CYP24A1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal